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dbVar

Database of genomic structural variation

nsv6618228

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:14,782

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 134 SVs from 36 studies. See in: genome view

Submitted genomic99,008,093-99,022,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6618228	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	99,008,093	99,022,874
nsv6618228	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	98,605,716	98,620,497

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18233179	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18233179	Submitted genomic		NC_000007.14:g.990 08093_99022874dup	GRCh38 (hg38)		NC_000007.14	Chr7	99,008,093	99,022,874
nssv18233179	Remapped	Perfect	NC_000007.13:g.986 05716_98620497dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	98,605,716	98,620,497

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18233179	<0.001	1	39250

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